November 2019

Individuals with Barth syndrome demonstrate reduced functional exercise capacity, balance, reaction time, and muscle strength 

Recently published results by Brittany Hornby (figure A), Hilary Vernon et al, describe the reduction of multiple physiological parameters in people with Barth syndrome that participated in on-site research at the 2014 and 2016 Barth Syndrome International Conferences.

Utilizing assays such as the six-minute walk test to assess functional exercise capacity (6MWT, figure B) and leg skeletal muscle strength via the five times sit to stand test (5 TSTS, figure C), Hornby et al found that kids and adults with Barth syndrome walk less and take longer to sit and stand when compared to unaffected individuals (controls). A key value of these tests is that they are readily available in most clinical settings and are easily performed during regularly scheduled appointments.

These tests were also key clinical trial endpoints utilized in the assessment of elamipretide in individuals with Barth syndrome (TAZPOWER). These findings during the blinded and open-label extension stages of the trial, alongside patient-reported outcomes and clinician-reported findings, will serve as the dataset to assess the safety and efficacy of elamipretide for Barth syndrome.

Gene Therapy Spotlight 

"Piecing together the puzzle:
Planning a gene therapy program in Barth syndrome"

Read BSF's feature article in the autumn 2019 Gene Therapy edition of Rare Revolution Magazine describing our navigation of regulatory, financial, manufacturing challenges and steadfast efforts building a clinical trial-ready population. Driven by a community committed to finding a cure for Barth syndrome and two decades of research, the potential for realization of gene therapy for Barth syndrome - and the complexities of making it work - are at the forefront of the organization's mission today.

UPCOMING WEBINAR: "Understanding the Gene Therapy Process and Aftercare", Thursday November 20th at 2 pm

Join the National Organization for Rare Disorders (NORD) and BSF research grant recipient Dr. Barry Byrne this month to learn how patients are identified as candidates for gene therapy, who may be on a gene therapy treatment team, how long the procedure takes, and what to expect during recovery and longer term follow up. Register here to join this free webinar.

2020 BSF Research Grant Cycle Begins with 15 Novel Research Applications

BSF's grant submission period ended on Halloween, with research applications spanning cellular and biochemical biology, systems biology, animal model exploration, and potential therapeutic avenues. As the peer review process begins, BSF would like to extend a gracious thank you to partners such as UMDF, Lupus Research Alliance, and especially our first research publication partner, the Society for Leukocyte Biology for helping publicize BSF's call for research proposals. 

The Society for Leukocyte Biology (SLB) is a diverse community of like-minded researchers and clinicians; translating discoveries and understanding implications, applications, and practices. The society’s journal, the Journal of Leukocyte Biology (JLB), publishes high quality original research, rapid communications of new discoveries, letters, commentaries, and in-depth reviews devoted to exploring the cells and mechanisms underlying host physiology and defense/resistance against disease. JLB is an excellent platform for Barth syndrome researchers and clinicians to publish their work in reaching a global community and realizing our common goal.

Registration is now open for Barth 2020, the BSF International Scientific, Medical, and Family Conference!

Join BSF in its cornerstone, multi-track event that brings researchers, clinicians, and families from around the world to conduct on-site research like Hornby's efforts above, and ultimately advance the potential for new therapies for Barth syndrome.

July 20-26 at the Hilton Clearwater Beach Resort & Spa, Florida

For registration, more information, and sponsorship opportunities, visit barthsyndrome.org/conference.

BSF's research mission is funded by generous donors from around the world who share our mission - to create a world where there is no longer suffering or loss of life caused by Barth syndrome.

Please support our cause this holiday season!